1Cntr for Genomic Medicine, Massachusetts General Hosp, Boston, MA2Div of Neurocritical Care and Emergency Neurology, Yale Univ Sch of Medicine, New Haven, CT3Program in Med and Population Genetics, Broad Institute, Cambridge, MA4American Heart Association, Dallas, TX
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Introduction: High throughput genotyping technologies and large collaborative consortia have revolutionized the field of medical genetics. Open data access is the final barrier capitalizing fully on the opportunities available in stroke genetics research. The International Stroke Genetics Consortium (ISGC) has created the Cerebrovascular Disease Knowledge Portal (CDKP), a platform to explore and access genetic data related to cerebrovascular diseases.Methods: Funded by the NIH, the CDKP has been developed by the ISGC and the American Heart Association (AHA) Institute for Precision Cardiovascular Medicine. The CDKP seeks to democratize access to genomic data and potentiate stroke genomics research by providing open access to genetic, phenotypic and imaging data on patients with stroke. Within the CDKP, data are aggregated, integrated, and harmonized according to a pre-specified standardized pipeline. Any institution or investigator working with stroke genomic data is welcome to deposit their data or use available data.Results: The CDKP houses two types of data, for different regulatory and analytical needs: summary level data and individual level data. The CDKP offers three main features: (1) a web-based graphical user interphase that allows the exploration of genomic information through a wide menu of integrated tools for analysis and data visualization; (2) a repository of full sets of genome-wide summary statistics produced by published landmark studies in the field; and (3) a repository of individual level data, accessible through a secure cloud working space provided by the AHA Platform for Precision Medicine. The CDKP can be accessed at www.cerebrovascularportal.org.Conclusion: The CDKP advances the ISGC’s goal of liberal data sharing in stroke genomics and other areas of cardiovascular research that may benefit from genomic analyses. In the future, phenotypic datasets can be added to further enrich sharing of non-genetic data as well.